Canonical Allele Identifier: CA409639597

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038721G>A (hg19) ; chr20:g.63407368G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407368G>A , CM000682.2:g.63407368G>A	GRCh38
NC_000020.10:g.62038721G>A , CM000682.1:g.62038721G>A	GRCh37
NC_000020.9:g.61509165G>A	NCBI36
NG_009004.1:g.70273C>T
NG_009004.2:g.70273C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1949C>T	ENSP00000516702.1:p.Ser650Phe
ENST00000359125.7:c.1895C>T MANE Select	ENSP00000352035.2:p.Ser632Phe
ENST00000637193.1:c.1292C>T	ENSP00000490734.1:p.Ser431Phe
ENST00000637338.1:n.52C>T
ENST00000344462.8:c.1802C>T	ENSP00000339611.4:p.Ser601Phe
ENST00000357249.6:c.1463C>T	ENSP00000349789.3:p.Ser488Phe
ENST00000359125.6:c.1895C>T	ENSP00000352035.2:p.Ser632Phe
ENST00000360480.7:c.1811C>T	ENSP00000353668.3:p.Ser604Phe
ENST00000370224.5:c.1919C>T	ENSP00000359244.2:p.Ser640Phe
ENST00000625514.2:c.1883C>T	ENSP00000486040.1:p.Ser628Phe
ENST00000626839.2:c.1841C>T	ENSP00000486706.1:p.Ser614Phe
ENST00000629241.2:c.1811C>T	ENSP00000487142.1:p.Ser604Phe
ENST00000629676.2:c.1679+6082C>T	ENSP00000486194.1:n.1679+6082C>T
NM_004518.4:c.1811C>T	NP_004509.2:p.Ser604Phe
NM_172106.1:c.1841C>T	NP_742104.1:p.Ser614Phe
NM_172107.2:c.1895C>T	NP_742105.1:p.Ser632Phe
NM_172108.3:c.1802C>T	NP_742106.1:p.Ser601Phe
XM_006723787.1:c.1937C>T	XP_006723850.1:p.Ser646Phe
XM_011528807.1:c.2003C>T	XP_011527109.1:p.Ser668Phe
XM_011528808.1:c.2000C>T	XP_011527110.1:p.Ser667Phe
XM_011528809.1:c.1973C>T	XP_011527111.1:p.Ser658Phe
XM_011528810.1:c.1949C>T	XP_011527112.1:p.Ser650Phe
XM_011528811.1:c.1919C>T	XP_011527113.1:p.Ser640Phe
XM_011528812.1:c.1892C>T	XP_011527114.1:p.Ser631Phe
XM_011528813.1:c.1877C>T	XP_011527115.1:p.Ser626Phe
XM_011528814.1:c.1484C>T	XP_011527116.1:p.Ser495Phe
NM_004518.5:c.1811C>T	NP_004509.2:p.Ser604Phe
NM_172106.2:c.1841C>T	NP_742104.1:p.Ser614Phe
NM_172107.3:c.1895C>T	NP_742105.1:p.Ser632Phe
NM_172108.4:c.1802C>T	NP_742106.1:p.Ser601Phe
XM_011528810.2:c.1949C>T	XP_011527112.1:p.Ser650Phe
XM_011528811.2:c.1919C>T	XP_011527113.1:p.Ser640Phe
XM_017027841.2:c.1946C>T	XP_016883330.1:p.Ser649Phe
XM_017027842.2:c.1883C>T	XP_016883331.1:p.Ser628Phe
XM_017027843.1:c.1880C>T	XP_016883332.1:p.Ser627Phe
XM_017027844.2:c.1838C>T	XP_016883333.1:p.Ser613Phe
XM_017027845.1:c.911C>T	XP_016883334.1:p.Ser304Phe
NM_004518.6:c.1811C>T	NP_004509.2:p.Ser604Phe
NM_172106.3:c.1841C>T	NP_742104.1:p.Ser614Phe
NM_172107.4:c.1895C>T MANE Select	NP_742105.1:p.Ser632Phe
NM_172108.5:c.1802C>T	NP_742106.1:p.Ser601Phe
NM_001382235.1:c.1949C>T	NP_001369164.1:p.Ser650Phe